Canonical Allele Identifier: CA1239701931

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26193678_26193696delinsACATCCACACCAACTTCAT , CM000664.2:g.26193678_26193696delinsACATCCACACCAACTTCAT	GRCh38
NC_000002.11:g.26416547_26416565delinsACATCCACACCAACTTCAT , CM000664.1:g.26416547_26416565delinsACATCCACACCAACTTCAT	GRCh37
NC_000002.10:g.26270051_26270069delinsACATCCACACCAACTTCAT	NCBI36
NG_007121.1:g.55925_55943delinsATGAAGTTGGTGTGGATGT
NG_007121.2:g.55926_55944delinsATGAAGTTGGTGTGGATGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000380649.8:c.1766_1784delinsATGAAGTTGGTGTGGATGT (HADHA) MANE Select	ENSP00000370023.3:p.Asp589=
ENST00000492433.2:c.1766_1784delinsATGAAGTTGGTGTGGATGT (HADHA)	ENSP00000438039.2:p.Asp589=
ENST00000643057.1:c.*1657_*1675delinsATGAAGTTGGTGTGGATGT (HADHA)	ENSP00000493761.1:n.*1657_*1675delinsATGA...
ENST00000643063.1:c.*812_*830delinsATGAAGTTGGTGTGGATGT (HADHA)	ENSP00000495353.1:n.*812_*830delinsATGAAG...
ENST00000643233.1:c.*1657_*1675delinsATGAAGTTGGTGTGGATGT (HADHA)	ENSP00000493880.1:n.*1657_*1675delinsATGA...
ENST00000644428.1:c.*390_*408delinsATGAAGTTGGTGTGGATGT (HADHA)	ENSP00000495560.1:n.*390_*408delinsATGAAG...
ENST00000645274.1:c.1661_1679delinsATGAAGTTGGTGTGGATGT (HADHA)	ENSP00000493996.1:p.Asp554=
ENST00000646031.1:c.1125_1143delinsATGAAGTTGGTGTGGATGT (HADHA)
ENST00000646483.1:c.1632_1650delinsATGAAGTTGGTGTGGATGT (HADHA)	ENSP00000496185.1:n.1632_1650delinsATGAAG...
ENST00000380649.7:c.1766_1784delinsATGAAGTTGGTGTGGATGT (HADHA)	ENSP00000370023.3:p.Asp589=
ENST00000492433.1:c.224_242delinsATGAAGTTGGTGTGGATGT (HADHA)	ENSP00000438039.1:p.Asp75=
NM_000182.4:c.1766_1784delinsATGAAGTTGGTGTGGATGT (HADHA)	NP_000173.2:p.Asp589=
XM_011532567.1:c.1683+6363_1683+6381delinsACATCCACACCAACTTCAT (GAREM2)	XP_011530869.1:n.1683+6363_1683+6381delin...
XM_011532567.3:c.1683+6363_1683+6381delinsACATCCACACCAACTTCAT (GAREM2)	XP_011530869.1:n.1683+6363_1683+6381delin...
NM_000182.5:c.1766_1784delinsATGAAGTTGGTGTGGATGT (HADHA) MANE Select	NP_000173.2:p.Asp589=